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Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12
Author / Creator:De Meirleir, L ; Seneca, S ; Lissens, W ; De Clercq, I ; Eyskens, F ; Gerlo, E ; Smet, J ; Van Coster, R
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2004-02, Vol.41 (2), p.120-124
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Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation
Author / Creator:Grodecká, L. ; Kováčová, T. ; Kramárek, M. ; Seneca, S. ; Stouffs, K. ; De Laet, C. ; Majer, F. ; Kršjaková, T. ; Hujová, P. ; Hrnčířová, K. ; Souček, P. ; Lissens, W. ; Buratti, E. ; Freiberger, Tomas
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of molecular medicine (Berlin, Germany), 2017-03, Vol.95 (3), p.299-309
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An unusual case of neonatal erythroderma
Author / Creator:MacInnes, M ; Schofield, O ; Tidman, M ; Lissens, W ; Lampe, A ; Jones, L
Publisher:London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
Journal title:Archives of disease in childhood, 2011-04, Vol.96 (Suppl 1), p.A56-A56
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Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects
Author / Creator:De Paepe, B ; Smet, J ; Lammens, M ; Seneca, S ; Martin, J-J ; De Bleecker, J ; De Meirleir, L ; Lissens, W ; Van Coster, R
Publisher:London: BMJ Publishing Group Ltd and Association of Clinical Pathologists
Journal title:Journal of clinical pathology, 2009-02, Vol.62 (2), p.172-176
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Is β-glucuronidase a clinical useful biomarker for an acute organophosphorus poisoning?
Author / Creator:Sabbe, MB ; Desruelles, D ; Lissens, W
Publisher:London, England: SAGE Publications
Journal title:Human & experimental toxicology, 2008-05, Vol.27 (5), p.431-433
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Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation
Author / Creator:Limaye, Nisha ; Revencu, N ; Van Regemorter, N ; Garzon, M ; Bonduelle, M ; Chung, W ; Daras, M D ; Fahey, M C ; Garrett, C ; Gillerot, Y ; Gillessen-Kaesbach, G ; Giménez-Arnau, A ; Guzzetta, F ; Battaglia, D ; Heimdal, K ; Lissens, W ; Taub, E ; Van Maldergem, L ; Van Paesschen, W ; Wieczorek, D ; Wood, N W ; Boon, L ; Vikkula, M
Publisher:Germany
Journal title:Human genetics, 2007-12, Vol.122 (5), p.550
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Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation
Author / Creator:Limaye, Nisha ; Revencu, N ; Van Regemorter, N ; Garzon, M ; Bonduelle, M ; Chung, W ; Daras, M D ; Fahey, M C ; Garrett, C ; Gillerot, Y ; Gillessen-Kaesbach, G ; Giménez-Arnau, A ; Guzzetta, F ; Battaglia, D ; Heimda, K ; Lissens, W ; Taub, E ; Van Maldergem, L ; Van Paesschen, W ; Wieczorek, D ; Wood, N W ; Boon, L ; Vikkula, M
Publisher:Germany
Journal title:Human genetics, 2007-12, Vol.122 (5), p.549-549
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Preimplantation genetic diagnosis for spinal and bulbar muscular atrophy (SBMA)
Author / Creator:Georgiou, Ioannis ; Sermon, Karen ; Lissens, Willy ; De Vos, Anick ; Platteau, Peter ; Lolis, Dimitrios ; Van Steirteghem, Andre ; Liebaers, Inge
Publisher:Heidelberg: Springer
Journal title:Human genetics, 2001-06, Vol.108 (6), p.494-498
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Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1α gene
Author / Creator:Lissens, W. ; Vreken, P. ; Barth, P. G. ; Wijburg, F. A. ; Ruitenbeek, W. ; Wanders, R. J. A. ; Seneca, S. ; Liebaers, I. ; De Meirleir, L.
Publisher:Heidelberg: Springer
Journal title:European journal of pediatrics, 1999-10, Vol.158 (10), p.853-857
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A novel mitochondrial transfer RNA proline mutation
Author / Creator:Seneca, S. ; Lissens, W. ; Ceuterick‐De Groote, C. ; Van Coster, R. ; De Meirleir, L.
Publisher:Dordrecht: Kluwer Academic Publishers
Journal title:Journal of inherited metabolic disease, 2000-12, Vol.23 (8), p.853-854
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Efficiency and accuracy of polymerase-chain-reaction assay for cystic fibrosis allele ΔF508 in single cell
Author / Creator:Liu, J. ; Devroey, P. ; Van Steirteghem, A.C. ; Lissens, W. ; Liebaers, I.
Publisher:London: Elsevier Ltd
Journal title:The Lancet (British edition), 1992-05, Vol.339 (8803), p.1190-1192
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Defect in the X-Lipoyl-Containing Component of the Pyruvate Dehydrogenase Complex in a Patient With a Neonatal Lactic Acidemia
Author / Creator:GEOFFROY, V. ; FOUQUE, F. ; BENELLI, C. ; POGGI, F. ; SAUDUBRAY, J. M. ; LISSENS, W. ; MEIRLEIR, L. D. ; MARSAC, C. ; LINDSAY, J. G. ; SANDERSON, S. J.
Publisher:Elk Grove Village, IL: American Academy of Pediatrics
Journal title:Pediatrics (Evanston), 1996-02, Vol.97 (2), p.267-272
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Localization by fluorescence in situ hybridization of the human functional β-glucuronidase gene (GUSB) to 7q11.21→q11.22 and two pseudogenes to 5p13 and 5q13
Author / Creator:Speleman, F. ; Vervoort, R. ; Van Roy, N. ; Liebaers, I. ; Sly, W.S. ; Lissens, W.
Publisher:Basel, Switzerland
Journal title:Cytogenetic and genome research, 1996-01, Vol.72 (1), p.53-55
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Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease
Author / Creator:Janssens, K ; Gershoni-Baruch, R ; Guañabens, N ; Migone, N ; Ralston, S ; Bonduelle, M ; Lissens, W ; Van Maldergem, L ; Vanhoenacker, F ; Verbruggen, L ; Van Hul, W
Publisher:United States
Journal title:Nature genetics, 2000-11, Vol.26 (3), p.273-275
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Possible role of USP26 in patients with severely impaired spermatogenesis
Author / Creator:Stouffs, Katrien ; Lissens, Willy ; Tournaye, Herman ; Van Steirteghem, André ; Liebaers, Inge
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2005-03, Vol.13 (3), p.336-340
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Is b-glucuronidase a clinical useful biomarker for an acute organophosphorus poisoning?
Author / Creator:Sabbe, M B ; Desruelles, D ; Lissens, W
Journal title:Human & experimental toxicology, 2008-05, Vol.27 (5), p.431-433
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A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations
Author / Creator:Mercier, B ; Lissens, W ; Novelli, G ; Kalaydjieva, L ; de Arce, M ; Kapranov, N ; Canki Klain, N ; Estivill, X ; Palacio, A ; Cashman, S
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 1994-09, Vol.31 (9), p.731-734
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Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens
Author / Creator:Chillón, Miguel ; Casals, Teresa ; Mercier, Bernard ; Bassas, Lluís ; Lissens, Willy ; Silber, Sherman ; Romey, Marie-Catherine ; Ruiz-Romero, Javier ; Verlingue, Claudine ; Claustres, Mireille ; Nunes, Virginia ; Férec, Claude ; Estivill, Xavier
Publisher:Boston, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 1995-06, Vol.332 (22), p.1475-1480
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Mutations in the X-linked pyruvate dehydrogenase (E1) α subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency
Author / Creator:Lissens, Willy ; De Meirleir, Linda ; Seneca, Sara ; Liebaers, Inge ; Brown, Garry K. ; Brown, Ruth M. ; Ito, Michinori ; Naito, Etsuo ; Kuroda, Yasuhiro ; Kerr, Douglas S. ; Wexler, Isaiah D. ; Patel, Mulchand S. ; Robinson, Brian H. ; Seyda, Agnieszka
Publisher:New York: John Wiley & Sons, Inc
Journal title:Human mutation, 2000-01, Vol.15 (3), p.209-219
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Is [Beta]-glucuronidase a clinical useful biomarker for an acute organophosphorus poisoning?
Author / Creator:Sabbe, MB ; Desruelles, D ; Lissens, W
Publisher:London: Sage Publications Ltd
Journal title:Human & experimental toxicology, 2008-05, Vol.27 (5), p.431
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Showing 1 to 20 of 42 results

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Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

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Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation

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An unusual case of neonatal erythroderma

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Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects

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Is β-glucuronidase a clinical useful biomarker for an acute organophosphorus poisoning?

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Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation

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Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation

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Preimplantation genetic diagnosis for spinal and bulbar muscular atrophy (SBMA)

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Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1α gene

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A novel mitochondrial transfer RNA proline mutation

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Efficiency and accuracy of polymerase-chain-reaction assay for cystic fibrosis allele ΔF508 in single cell

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Defect in the X-Lipoyl-Containing Component of the Pyruvate Dehydrogenase Complex in a Patient With a Neonatal Lactic Acidemia

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Localization by fluorescence in situ hybridization of the human functional β-glucuronidase gene (GUSB) to 7q11.21→q11.22 and two pseudogenes to 5p13 and 5q13

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Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease

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Possible role of USP26 in patients with severely impaired spermatogenesis

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Is b-glucuronidase a clinical useful biomarker for an acute organophosphorus poisoning?

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A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations

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Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens

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Mutations in the X-linked pyruvate dehydrogenase (E1) α subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency

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Is [Beta]-glucuronidase a clinical useful biomarker for an acute organophosphorus poisoning?

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